Abstract
Charcot-Marie-Tooth (CMT) disease is a hereditary debilitating progressive muscular atrophy and sensory neuropathy of the distal extremities. CMT is usually nonlife threatening. Signs of the disease usually present in childhood or in young adulthood and the level of disability can be variable within and between families. Research addressing specific psychosocial and emotional issues faced by individuals with CMT is limited. Fourteen adults with a clinical and/or molecular diagnosis of CMT (ages 32–74 years) consented to an audio taped interview. The format of the interview was based around an informal questionnaire to prompt and guide the interviewee to describe their experiences of living with a disabling genetic disorder. The interviews focused on their experiences of first symptoms and diagnosis, their life experience with CMT, their limitations due to disability and the role of genetic counseling. This study identifies and explores life issues that individuals with CMT may face, specifically grief over the loss of independence, emotional pain and stress such as embarrassment and guilt of passing on a gene mutation, impact on quality of life, the impact of wearing orthopedic devices, and fear of progressive disability. Our findings suggest that that there are emotional and psychosocial issues specific to affected individuals at different life stages and genetic counselors need to be aware of these issues in order to provide age appropriate support and advice to individuals affected by CMT.
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References
Athena Diagnostics (2002). Charcot-Marie-Tooth Disease Type 2: Sessions. In NeuroCAST electronic database. Available at http://www.neurocast.com.
Bird, T. D. (Updated 21 June 2004). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests-GeneClinics: Medical genetics information resource [database online]. Copyright, University of Washington, Seattle. 1997–2001. Available at http://www.geneclinics.org or http://www.genetests.org.
Crabtree, L. (2002). Personal Communication. Linda Crabtree CM, O.Ont., O.M.C., B.A., LL.D. is the founder of CMT International in 1984 and publisher of 103 CMT Newsletters on CMT as well as several journal articles. Dr. Crabtree also has CMT.
De Jonghe, P., Timmerman, V., Nelis, E., Martin, J. J., & Van Broeckhoven, C. (1997). Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripher Nerv Syst, 2(4), 370–87.
De Jonghe, P., Nelis, E., Timmerman, V., Lofgren, A., Martin, J. J., & Van Broeckhoven, C. (1999). Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results. Ann N Y Acad Sci, 883, 389–96.
Dyck, P. J., & Lambert, E. H. (1968). Lower motor and primary sensory neuron diseases with peroneal muscular atrophy I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol, 18(6), 603–18.
Dyck, P. J., & Lambert, E. H. (1968). Lower motor and primary sensory neuron diseases with peroneal muscular atrophy II. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol, 18(6), 619–25.
Garcia, C. A. (1999). A clinical review of Charcot-Marie-Tooth. Ann N Y Acad Sci, 883, 69–76.
Goffman, E. (1997). Selections from Stigma. In L. Davis (Ed.), The disability studies reader (pp. 203–215). New York: Routledge.
Harding, A. E. (1995). Prenatal testing for CMT. CMT Facts III: Special Report, 3, 8.
Lebo, R. V. (1998). Prenatal diagnosis of Charcot-Marie-Tooth disease. Prenat Diagn, 18, 169–172.
Lovelace, R. E. (1999). Charcot-Marie-Tooth Disorders and Other Hereditary Neuropathies. In S. David & M. Younger (Ed.), Motor disorders (pp. 203–209). Philadelphia: Lippincott Williams & Wilkins.
MacMillan, J. C., & Harper, P. S. (1992). The Charcot-Marie-Tooth syndrome: Perceptions of disability and projected use of DNA diagnostic tests. Clin Genet, 42, 161–163.
Marshak, L. E., Seligman, M., & Prezant, F. (1999). Chapter 1: Families coping with disability. Foundational and conceptual issues. In Disability and the family life cycle (pp. 1–37). Portland: Book News, Inc.
Miller, N. B., & Simmons, C. C. (1999). Everybody’s different. (pp. 123). Maryland: Paul H. Brookes Publishing Co.
Natterlund, B., Gunnarsson, L. G., & Ahlstrom, G. (2000). Disability, coping and quality of life in individuals with muscular dystrophy: A prospective study over five years. Disability and Rehabilitation, 22, 776–785.
Natterlund, B., Sjoden, P. O., & Ahlstrom, G. (2001). The illness experience of adult persons with muscular dystrophy. Disability and Rehabilitation, 23, 788–798.
Parry, G. J. (1995). Charcot-Marie-Tooth disorders: A handbook for primary care physicians. Chester, PA: Charcot-Marie Tooth Association.
Reilly, M. M. (1998). Genetically determined neuropathies. J Neurol, 245, 6–13.
Richards, F. (1994). Family counseling and CMT. CMT Journal (The journal of the Charcot-Marie-Tooth association of Australia incorporated). No. 1: 24–26.
Scriver, C. R., Beaudet, A. L., Sly, W. S., & Valle, D. (2001). Charcot-Marie-Tooth peripheral neuropathies and related disorders. Metabolic and molecular bases of inherited disease (pp. 6338), 8th Ed, vol 4. New York, NY: McGraw-Hill.
Teunissen, L. L., Notermans, N. C., Franssen, H., Van Engelen, B. G., Baas, F., & Wokke, J. H. (2003). Disease course of Charcot-Marie-Tooth disease type 2: A 5-year follow-up study. Arch Neurol, 60(6), 823–8.
Thomas, P. K. (1999). Overview of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci, 883, 1–5.
Vizbar, M. (2000). Celebrating our creative side. CMT Newsletter, Vol. 17, No. 3, June/July, pp. 1, 6–8.
Wertz, D. C., & Knoppers, B. M. (2002). Serious genetic disorders: Can or should they be defined? Am J Med Genet, 108, 29–35.
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Arnold, A., McEntagart, M. & Younger, D.S. Psychosocial Issues That Face Patients With Charcot-Marie-Tooth Disease: The Role of Genetic Counseling. J Genet Counsel 14, 307–318 (2005). https://doi.org/10.1007/s10897-005-0760-z
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DOI: https://doi.org/10.1007/s10897-005-0760-z